Publications by authors named "Judith Goodship"

75Publications

Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.

Am J Med Genet A 2017 Jun 19;173(6):1566-1574. Epub 2017 Apr 19.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.

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June 2017

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation.

Am J Hum Genet 2015 Sep 27;97(3):419-34. Epub 2015 Aug 27.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK. Electronic address:

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September 2015

Association analysis identifies new risk loci for congenital heart disease in Chinese populations.

Nat Commun 2015 Aug 18;6:8082. Epub 2015 Aug 18.

1] State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China [2] Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, China.

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August 2015

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

J Med Genet 2015 May 23;52(5):322-9. Epub 2015 Feb 23.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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May 2015

Factors determining penetrance in familial atypical haemolytic uraemic syndrome.

J Med Genet 2014 Nov 26;51(11):756-64. Epub 2014 Sep 26.

Peninsula Clinical Genetics Service, Royal Devon & Exeter NHS Foundation Trust, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK University of Exeter Medical School, University of Exeter, Exeter, UK.

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November 2014

Using population data for assessing next-generation sequencing performance.

Bioinformatics 2015 Jan 17;31(1):56-61. Epub 2014 Sep 17.

Oxford Gene Technology, Begbroke Science Park, Oxford, Oxfordshire, OX5 1PF, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway NE1 3BZ, Newcastle upon Tyne and The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

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January 2015

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.

PLoS One 2013 4;8(12):e81625. Epub 2013 Dec 4.

Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom ; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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September 2014

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

Clin Kidney J 2013 Aug 23;6(4):410-3. Epub 2013 Jun 23.

Renal Unit, Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle Upon Tyne, UK; Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK.

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August 2013

Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.

Am J Kidney Dis 2013 Nov 16;62(5):978-83. Epub 2013 Jul 16.

Northern Molecular Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.

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November 2013

Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.

PLoS One 2013 16;8(4):e60352. Epub 2013 Apr 16.

Institutes of Genetic and Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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November 2013

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.

Bone 2012 Jan 31;50(1):28-41. Epub 2011 Aug 31.

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid and Ciber de enfermedades raras, Arturo Duperier 4, Madrid 28029, Spain.

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January 2012

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.

BMC Biol 2011 Feb 28;9:14. Epub 2011 Feb 28.

Institute of Human Genetics, Newcastle University, Centre for Life, Central Parkway, Newcastle Upon Tyne, NE1 3BZ, UK.

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February 2011

Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

Circ Cardiovasc Genet 2011 Feb 2;4(1):43-50. Epub 2010 Dec 2.

Heart Failure Research Center, the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands.

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February 2011

Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux.

J Am Soc Nephrol 2010 Jan 3;21(1):113-23. Epub 2009 Dec 3.

Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK.

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January 2010

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Am J Med Genet C Semin Med Genet 2009 Nov;151C(4):341-51

Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Científicas-Universidad Autó noma de Madrid, Spain.

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November 2009

Neuromuscular disease presentation with three genetic defects involving two genomes.

Neuromuscul Disord 2009 Dec 22;19(12):841-4. Epub 2009 Oct 22.

Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK.

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December 2009

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Hum Genet 2007 Jan 21;120(5):663-70. Epub 2006 Sep 21.

Institute of Human Genetics, Newcastle University, Central parkway, Newcastle upon Tyne, UK.

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January 2007

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation.

J Exp Med 2006 Jan 3;203(1):99-110. Epub 2006 Jan 3.

Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska University Hospital, Huddinge, SE-14186 Stockholm, Sweden.

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January 2006

Does complement factor B have a role in the pathogenesis of atypical HUS?

Mol Immunol 2006 Mar 2;43(7):856-9. Epub 2005 Aug 2.

Washington University School of Medicine, Campus Box 8045, St. Louis, MO 63110, USA.

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March 2006

Cilia and disease.

Curr Opin Genet Dev 2005 Jun;15(3):308-14

Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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June 2005

A perspective on inversin.

Cell Biol Int 2004 ;28(2):119-24

Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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October 2004

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Eur J Hum Genet 2003 Nov;11(11):851-7

Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.

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November 2003

Successful (?) therapy of hemolytic-uremic syndrome with factor H abnormality.

Pediatr Nephrol 2003 Sep 26;18(9):952-5. Epub 2003 Jun 26.

Zentrum für Kinderheilkunde und Jugendmedizin, Universität Freiburg, Freiburg, Germany.

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September 2003

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

Nat Genet 2003 Apr 17;33(4):497-501. Epub 2003 Mar 17.

Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RQ, UK.

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April 2003

Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle.

Hum Mol Genet 2002 Dec;11(26):3345-50

Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.

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December 2002

The genetics and pathogenesis of haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura.

Curr Opin Nephrol Hypertens 2002 Jul;11(4):431-5

The Institute of Human Genetics and School of Clinical Medical Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne NE1 4LP, UK.

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July 2002

The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin.

Hum Genet 2002 Apr 2;110(4):377-84. Epub 2002 Mar 2.

Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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April 2002